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A Missense Variant in the Bardet-Biedl Syndrome 2 Gene (BBS2) Leads to a Novel Syndromic Retinal Degeneration in the Shetland Sheepdog.

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cam.issuedOnline2021-11-08
dc.contributor.authorHitti-Malin, Rebekkah J
dc.contributor.authorBurmeister, Louise M
dc.contributor.authorLingaas, Frode
dc.contributor.authorKaukonen, Maria
dc.contributor.authorPettinen, Inka
dc.contributor.authorLohi, Hannes
dc.contributor.authorSargan, David
dc.contributor.authorMellersh, Cathryn S
dc.contributor.orcidBurmeister, Louise M [0000-0002-6551-055X]
dc.contributor.orcidKaukonen, Maria [0000-0002-2146-4694]
dc.contributor.orcidPettinen, Inka [0000-0002-7632-3936]
dc.contributor.orcidLohi, Hannes [0000-0003-1087-5532]
dc.contributor.orcidSargan, David [0000-0001-9897-2489]
dc.date.accessioned2022-01-10T12:44:43Z
dc.date.available2022-01-10T12:44:43Z
dc.date.issued2021-11-08
dc.date.updated2022-01-10T12:44:43Z
dc.description.abstractCanine progressive retinal atrophy (PRA) describes a group of hereditary diseases characterized by photoreceptor cell death in the retina, leading to visual impairment. Despite the identification of multiple PRA-causing variants, extensive heterogeneity of PRA is observed across and within dog breeds, with many still genetically unsolved. This study sought to elucidate the causal variant for a distinct form of PRA in the Shetland sheepdog, using a whole-genome sequencing approach. Filtering variants from a single PRA-affected Shetland sheepdog genome compared to 176 genomes of other breeds identified a single nucleotide variant in exon 11 of the Bardet-Biedl syndrome-2 gene (BBS2) (c.1222G>C; p.Ala408Pro). Genotyping 1386 canids of 155 dog breeds, 15 cross breeds and 8 wolves indicated the c.1222G>C variant was only segregated within Shetland sheepdogs. Out of 505 Shetland sheepdogs, seven were homozygous for the variant. Clinical history and photographs for three homozygotes indicated the presence of a novel phenotype. In addition to PRA, additional clinical features in homozygous dogs support the discovery of a novel syndromic PRA in the breed. The development and utilization of a diagnostic DNA test aim to prevent the mutation from becoming more prevalent in the breed.
dc.identifier.doi10.17863/CAM.79923
dc.identifier.eissn2073-4425
dc.identifier.issn2073-4425
dc.identifier.otherPMC8624581
dc.identifier.other34828377
dc.identifier.urihttps://www.repository.cam.ac.uk/handle/1810/332473
dc.languageeng
dc.language.isoeng
dc.publisherMDPI AG
dc.publisher.urlhttp://dx.doi.org/10.3390/genes12111771
dc.rightsAttribution 4.0 International
dc.rights.urihttps://creativecommons.org/licenses/by/4.0/
dc.sourceessn: 2073-4425
dc.sourcenlmid: 101551097
dc.subjectBBS
dc.subjectBBS2
dc.subjectPRA
dc.subjectcanine
dc.subjectretinal degeneration
dc.subjectsyndromic
dc.subjectAnimals
dc.subjectDog Diseases
dc.subjectDogs
dc.subjectFemale
dc.subjectHybridization, Genetic
dc.subjectMale
dc.subjectMutation, Missense
dc.subjectPhenotype
dc.subjectProteins
dc.subjectRetinal Degeneration
dc.subjectWhole Genome Sequencing
dc.subjectWolves
dc.titleA Missense Variant in the Bardet-Biedl Syndrome 2 Gene (BBS2) Leads to a Novel Syndromic Retinal Degeneration in the Shetland Sheepdog.
dc.typeArticle
dcterms.dateAccepted2021-11-04
prism.issueIdentifier11
prism.publicationNameGenes (Basel)
prism.volume12
pubs.funder-project-idWellcome Trust (090532/Z/09/Z)
rioxxterms.licenseref.urihttps://creativecommons.org/licenses/by/4.0/
rioxxterms.versionVoR
rioxxterms.versionofrecord10.3390/genes12111771

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